Hb Belfast beta15(A12)Trp->Arg
         
CONTACT Internal; A-E helices spacer
HEMATOLOGY Approximately normal in the heterozygote; Heinz bodies can be seen
ELECTROPHORESIS Hb X moves as Hb S on cellulose acetate at alkaline pH, and like Hb A on citrate agar at acidic pH
CHROMATOGRAPHY DEAE-Sephadex was used to isolate Hb X
STRUCTURE STUDIES Fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation TGG->AGG or CGG at codon 15
FUNCTION STUDIES Increased oxygen affinity
STABILITY Unstable
OCCURRENCE Found in a few Irish and French patients
OTHER INFORMATION Quantity in heterozygotes 27.5-29%
       
REFERENCES
1. Kennedy, C.C., Blundell, G., Lorkin, P.A., Lang, A., and Lehmann, H.: Br. Med. J., 4:324, 1974.
2. Gacon, G., Wajcman, H., Labie, D., Varet, B., and Christoforov, G.: Acta Haematol., 55:313, 1976.


This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.